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dc.creatorWohllk G,Nelson
dc.creatorBecker C,Pedro
dc.creatorVéliz L,Jesús
dc.creatorPineda V,Gustavo
dc.date2000-07-01
dc.date.accessioned2019-09-10T12:39:20Z
dc.date.available2019-09-10T12:39:20Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700014
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/105145
dc.descriptionMultiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the identification of the genes causing MEN 1 and 2. The gene responsable for MEN 1 belongs to the family of tumor suppressor genes and encodes for a protein named MENIN whose function remains to be elucidated. The identification of mutant MEN 1 gene carriers who are at risk of developing this syndrome requires frequent biochemical screening for the development of endocrine tumors. MEN 2 is a consequence of mutations in the Ret proto- oncogene (c-Ret). This gene encodes for a tyrosine kinase receptor thought to play a role in the development of neural crest- derived tissue. Members of kindred with either MEN 2A or MEN 2B should be screened by direct DNA testing early in life for mutations in c-Ret. Those with the mutation should be advised to have thyroidectomy at five years of age in children with MEN 2A and earlier in children with MEN 2B . Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC (Rev Méd Chile 2000; 128: 811-20).
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dc.languagees
dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872000000700014
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.128 n.7 2000
dc.subjectGenetics, biochemical
dc.subjectMolecular biology
dc.subjectMultiple endocrine neoplasia
dc.subjectMutation
dc.titleNeoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular


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